FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term primary coenzyme Q10 deficiency 9 ID (Ontology) DOID:0112138 (Human Disease)
Definition A coenzyme Q10 deficiency disease characterized by onset in the first decade of life of cerebellar ataxia associated with cerebellar atrophy that has_material_basis_in mutation homozygous or compound heterozygous in the COQ5 gene on chromosome 12q24.31.
Also Known As "COQ10D9"
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 Genes
 primary coenzyme Q10 deficiency 9       1
 for disease ribbon | primary coenzyme Q10 deficiency 9       1
 model of | primary coenzyme Q10 deficiency 9       1
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autosomal genetic disease
 |__autosomal recessive disease______
mitochondrial metabolism disease     |
 |__coenzyme Q10 deficiency disease__|
                                     primary coenzyme Q10 deficiency 9  1 rec.
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Is a coenzyme Q10 deficiency disease
autosomal recessive disease
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Synonyms
  • "COQ10D9" EXACT OMO:0003012
Secondary IDs
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MIM:619028